ENSMUSG00000032245


Mus musculus

Features
Gene ID: ENSMUSG00000032245
  
Biological name :Cln6
  
Synonyms : ceroid-lipofuscinosis, neuronal 6 / Cln6
  
Possible biological names infered from orthology : CLN6, transmembrane ER protein / Q9NWW5
  
Species: Mus musculus
  
Chr. number: 9
Strand: 1
Band: B
Gene start: 62838785
Gene end: 62852006
  
Corresponding Affymetrix probe sets: 10586110 (MoGene1.0st)   1454837_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000114283
Ensembl peptide - ENSMUSP00000115675
Ensembl peptide - ENSMUSP00000117833
Ensembl peptide - ENSMUSP00000034776
NCBI entrez gene - 76524     See in Manteia.
MGI - MGI:2159324
RefSeq - NM_001033175
RefSeq Peptide - NP_001028347
swissprot - Q3U466
swissprot - D6RE34
swissprot - F6SXC2
swissprot - F6YAC1
Ensembl - ENSMUSG00000032245
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cln6aENSDARG00000077584Danio rerio
 cln6bENSDARG00000090002Danio rerio
 CLN6ENSGALG00000007981Gallus gallus
 CLN6ENSG00000128973Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR029255  Ceroid-lipofuscinosis neuronal protein 6


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001573 ganglioside metabolic process ISO
 biological_processGO:0007040 lysosome organization IMP
 biological_processGO:0007042 lysosomal lumen acidification ISO
 biological_processGO:0007601 visual perception IMP
 biological_processGO:0008203 cholesterol metabolic process ISO
 biological_processGO:0030203 glycosaminoglycan metabolic process ISO
 biological_processGO:0031987 locomotion involved in locomotory behavior IMP
 biological_processGO:0044265 cellular macromolecule catabolic process IMP
 biological_processGO:0045862 positive regulation of proteolysis ISO
 cellular_componentGO:0005783 endoplasmic reticulum ISO
 cellular_componentGO:0005788 endoplasmic reticulum lumen ISO
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0042803 protein homodimerization activity ISO


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000753 paralysis "loss of power of voluntary movement in a muscle through injury or disease of its nerve supply" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Smad2tm1Rob/Smad2tm1Rob
Genetic Background: involves: 129S/SvEv

 MP:0000754 partial paralysis "partial loss of power of voluntary movement in a muscle through injury or disease of it or its nerve supply" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Smad2tm1Rob/Smad2tm1Rob
Genetic Background: involves: 129S/SvEv

 MP:0000920 abnormal myelination "atypical or altered myelination in axon sheaths" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Smad2tm1Rob/Smad2tm1Rob
Genetic Background: involves: 129S/SvEv

 MP:0001325 abnormal retina morphology "structural or developmental anomaly of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Cbx2tm1b(KOMP)Wtsi/Cbx2+
Genetic Background: C57BL/6N-Cbx2tm1b(KOMP)Wtsi/H

 MP:0001326 retinal degeneration "pathological change in the thin layer of neural tissue lining the back of the eyeball, which contains visual receptors and can result in the impairment or cessation of retinal neural function" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator]
Show

Allelic Composition: Smad2tm1Rob/Smad2tm1Rob
Genetic Background: involves: 129S/SvEv

 MP:0002064 seizures "sudden and often acute manifestation of epileptic attack, sometimes convulsive" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Smad2tm1Rob/Smad2tm1Rob
Genetic Background: involves: 129S/SvEv

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Smad2tm1Rob/Smad2tm1Rob
Genetic Background: involves: 129S/SvEv

 MP:0002874 decreased hemoglobin content "decrease in the total hemoglobin content in the circulating blood" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Cbx2tm1b(KOMP)Wtsi/Cbx2+
Genetic Background: C57BL/6N-Cbx2tm1b(KOMP)Wtsi/H

 MP:0003354 astrocytosis "a proliferation or spread of astrocytes in the area of a degenerative lesion or damaged tissue" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Smad2tm1Rob/Smad2tm1Rob
Genetic Background: involves: 129S/SvEv

 MP:0003632 abnormal nervous system morphology 
Show

Allelic Composition: Pink1tm1Aub/Pink1tm1Aub,Tg(Prnp-SNCA*A53T)AAub/Tg(Prnp-SNCA*A53T)AAub
Genetic Background: involves: 129S/SvEv * FVB/N

 MP:0004811 abnormal neuron physiology "anomalous function of the cells of the nervous system that receive, conduct, and transmit impulses" [MESH:National Library of Medicine_Medical Subject Headings]
Show

Allelic Composition: Smad2tm1Rob/Smad2tm1Rob
Genetic Background: involves: 129S/SvEv

 MP:0005405 axon degeneration "retrogressive pathologic change in the single process of a nerve cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Smad2tm1Rob/Smad2tm1Rob
Genetic Background: involves: 129S/SvEv

 MP:0010025 decreased total body fat amount "less than the normal total amount of connective tissue composed of fat cells within the entire body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cbx2tm1b(KOMP)Wtsi/Cbx2+
Genetic Background: C57BL/6N-Cbx2tm1b(KOMP)Wtsi/H

 MP:0010123 increased bone mineral content "elevation in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cbx2tm1b(KOMP)Wtsi/Cbx2+
Genetic Background: C57BL/6N-Cbx2tm1b(KOMP)Wtsi/H

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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